He was born in Castelnaudary (département Aude, Languedoc-Roussillon) to Antoine Prosper Marfan and Adélaïde Thuries. He began his medical studies in Toulouse, where he stayed for two years before moving to Paris. He graduated in 1886, his education having been interrupted by a period of military service. In 1914 he became a professor of infantile hygiene in the pediatric clinic of the University of Paris. During the same year, he became a member of the Académie de Médecine.
In 1896, Marfan described a hereditary disorder of connective tissue that was to become known as Marfan syndrome, the term first being used by Henricus Jacobus Marie Weve (1888–1962) of Utrecht in 1931. Today, it is thought that Marfan's patient (a five-year-old girl named Gabrielle) was affected by a condition known as congenital contractural arachnodactyly, and not Marfan's syndrome.
Further eponymous medical conditions named after Antoine Marfan include:
- Dennie–Marfan syndrome
- Marfan's hypermobility syndrome
- Marfan's law
- Marfan's sign
- Marfan's symptom
- Marfan–Madelung syndrome
Marfan also had interests in the pediatric aspects of tuberculosis, nutrition and diphtheria. With Jacques-Joseph Grancher (1843–1907) and Jules Comby (1853–1947), he was co-author of Traité des maladies de l’enfance. From 1913 to 1922, he was publisher of the journal Le Nourrisson.
- Historia de la medicina - Antoine Marfan (Spanish)
- Marfan, Antoine (1896). "Un cas de déformation congénitale des quartre membres, plus prononcée aux extrémitiés, caractérisée par l'allongement des os avec un certain degré d'amincissement" [A case of congenital deformation of the four limbs, more pronounced at the extremities, characterized by elongation of the bones with some degree of thinning]. Bulletins et memoires de la Société medicale des hôspitaux de Paris 13 (3rd series): 220–226.
- Antoine Marfan - biography @ Who Named It
- Medicine.net Loeys–Dietz syndrome
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